HGVS | Genome Assembly |
---|---|
NC_000017.11:g.64496525A>C , CM000679.2:g.64496525A>C | GRCh38 |
NC_000017.10:g.62492643A>C , CM000679.1:g.62492643A>C | GRCh37 |
NC_000017.9:g.59923105A>C | NCBI36 |
NG_013029.1:g.5542T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000539111.7:c.444T>G MANE Select | ENSP00000442563.2:p.Val148= | |
ENST00000585104.2:n.415T>G | ||
ENST00000671755.1:c.415T>G | ||
ENST00000673460.1:c.415T>G | ||
ENST00000539111.6:c.444T>G | ENSP00000442563.2:p.Val148= | |
ENST00000578997.1:c.224+7T>G | ENSP00000464389.1:n.224+7T>G | |
ENST00000585141.5:n.495T>G | ||
NM_007215.3:c.444T>G | NP_009146.2:p.Val148= | |
XM_006721651.2:c.444T>G | XP_006721714.1:p.Val148= | |
XR_243630.1:n.495T>G | ||
XR_934357.1:n.495T>G | ||
XR_934358.1:n.495T>G | ||
NM_007215.4:c.444T>G MANE Select | NP_009146.2:p.Val148= |